Variant report

Variant	rs3113392
Chromosome Location	chr4:124775472-124775473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1347189	0.81[ASN][1000 genomes]
rs1433211	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1469718	0.81[ASN][1000 genomes]
rs1469720	0.81[ASN][1000 genomes]
rs2116985	0.81[ASN][1000 genomes]
rs2163876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3097903	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3097908	0.84[ASN][1000 genomes]
rs3097931	0.81[ASN][1000 genomes]
rs3097936	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3097938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3097940	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113388	0.89[ASN][1000 genomes]
rs3113389	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3113390	0.89[ASN][1000 genomes]
rs3113393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113395	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3113396	0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124769200-124778000	Weak transcription	Right Atrium	heart
2	chr4:124769400-124775800	Weak transcription	Ovary	ovary
3	chr4:124770400-124776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:124770400-124776000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:124771000-124778200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:124771200-124776200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:124771200-124777200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:124771400-124778000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:124773000-124775800	Weak transcription	Fetal Lung	lung
10	chr4:124773200-124778000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:124774600-124777800	Enhancers	HepG2	liver
12	chr4:124775200-124776200	Weak transcription	Psoas Muscle	Psoas
13	chr4:124775200-124777800	Weak transcription	HUVEC	blood vessel
14	chr4:124775400-124776800	Enhancers	Fetal Heart	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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